A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6499738



Internal ID20872961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:50433796..51355774hg38UCSC Ensembl
chr15:50725993..51647971hg19UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg38921979
hg19921979
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18178066
Samples
Known GenesAP4E1, CYP19A1, DCAF13P3, GLDN, MIR4713, SPPL2A, TNFAIP8L3, TRPM7, USP50, USP8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6499738
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer